BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 33061816)

  • 1. Multiple Developmental Defects in
    Jia S; Wu X; Wu Y; Cui X; Tao B; Zhu Z; Hu W
    Int J Biol Sci; 2020; 16(15):3039-3049. PubMed ID: 33061816
    [TBL] [Abstract][Full Text] [Related]  

  • 2. De novo SOX11 mutations cause Coffin-Siris syndrome.
    Tsurusaki Y; Koshimizu E; Ohashi H; Phadke S; Kou I; Shiina M; Suzuki T; Okamoto N; Imamura S; Yamashita M; Watanabe S; Yoshiura K; Kodera H; Miyatake S; Nakashima M; Saitsu H; Ogata K; Ikegawa S; Miyake N; Matsumoto N
    Nat Commun; 2014 Jun; 5():4011. PubMed ID: 24886874
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
    Hempel A; Pagnamenta AT; Blyth M; Mansour S; McConnell V; Kou I; Ikegawa S; Tsurusaki Y; Matsumoto N; Lo-Castro A; Plessis G; Albrecht B; Battaglia A; Taylor JC; Howard MF; Keays D; Sohal AS; ; Kühl SJ; Kini U; McNeill A
    J Med Genet; 2016 Mar; 53(3):152-62. PubMed ID: 26543203
    [TBL] [Abstract][Full Text] [Related]  

  • 4. First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
    Diel H; Ding C; Grehn F; Chronopoulos P; Bartsch O; Hoffmann EM
    BMC Ophthalmol; 2021 Jan; 21(1):28. PubMed ID: 33430815
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis.
    Khan U; Study D; Baker E; Clayton-Smith J
    Cleft Palate Craniofac J; 2018 Mar; 55(3):456-461. PubMed ID: 29437512
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.
    Okamoto N; Ehara E; Tsurusaki Y; Miyake N; Matsumoto N
    Congenit Anom (Kyoto); 2018 May; 58(3):105-107. PubMed ID: 28787104
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
    Vasileiou G; Vergarajauregui S; Endele S; Popp B; Büttner C; Ekici AB; Gerard M; Bramswig NC; Albrecht B; Clayton-Smith J; Morton J; Tomkins S; Low K; Weber A; Wenzel M; Altmüller J; Li Y; Wollnik B; Hoganson G; Plona MR; Cho MT; ; Thiel CT; Lüdecke HJ; Strom TM; Calpena E; Wilkie AOM; Wieczorek D; Engel FB; Reis A
    Am J Hum Genet; 2018 Mar; 102(3):468-479. PubMed ID: 29429572
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
    Alburaiky S; Taylor J; O'Grady G; Thomson G; Perry D; England EM; Yap P
    Am J Med Genet A; 2022 Aug; 188(8):2460-2465. PubMed ID: 35642566
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
    Pranckėnienė L; Siavrienė E; Gueneau L; Preikšaitienė E; Mikštienė V; Reymond A; Kučinskas V
    Mol Genet Genomic Med; 2019 Dec; 7(12):e1006. PubMed ID: 31628733
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.
    Keskinen S; Paakkola T; Mattila M; Hietala M; Koillinen H; Laine J; Haanpää MK
    Pediatr Dev Pathol; 2024; 27(2):181-186. PubMed ID: 37981638
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.
    Park H; Kim MS; Kim J; Jang JH; Choi JM; Lee SM; Cho SY; Jin DK
    Neuro Endocrinol Lett; 2021 Jan; 41(6):285-289. PubMed ID: 33714239
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
    Miyake N; Abdel-Salam G; Yamagata T; Eid MM; Osaka H; Okamoto N; Mohamed AM; Ikeda T; Afifi HH; Piard J; van Maldergem L; Mizuguchi T; Miyatake S; Tsurusaki Y; Matsumoto N
    Am J Med Genet A; 2016 Oct; 170(10):2662-70. PubMed ID: 27264538
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.
    Natsume T; Takano K; Motobayashi M; Kosho T
    Pediatr Int; 2018 Apr; 60(4):378-380. PubMed ID: 29504208
    [No Abstract]   [Full Text] [Related]  

  • 14. Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
    Vasko A; Drivas TG; Schrier Vergano SA
    Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205270
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Koebner phenomenon of vitiligo associated with Coffin-Siris syndrome.
    Hida T; Ishikawa A; Mizukami M; Uhara H
    Eur J Dermatol; 2020 Jun; 30(3):310-311. PubMed ID: 32666931
    [No Abstract]   [Full Text] [Related]  

  • 16. Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
    Hanker B; Gillessen-Kaesbach G; Hüning I; Lüdecke HJ; Wieczorek D
    Eur J Hum Genet; 2022 Jan; 30(1):126-132. PubMed ID: 33785884
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
    Kaname T; Yanagi K
    J Hum Genet; 2017 Aug; 62(8):739-740. PubMed ID: 28566769
    [No Abstract]   [Full Text] [Related]  

  • 18. Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
    Mari F; Marozza A; Mencarelli MA; Lo Rizzo C; Fallerini C; Dosa L; Di Marco C; Carignani G; Baldassarri M; Cianci P; Vivarelli R; Vascotto M; Grosso S; Rubegni P; Caffarelli C; Pretegiani E; Fimiani M; Garavelli L; Cristofoli F; Vermeesch JR; Nuti R; Dotti MT; Balestri P; Hayek J; Selicorni A; Renieri A
    Brain Dev; 2015 May; 37(5):527-36. PubMed ID: 25249037
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A 69-year-old woman with Coffin-Siris syndrome.
    Määttänen L; Hietala M; Ignatius J; Arvio M
    Am J Med Genet A; 2018 Aug; 176(8):1764-1767. PubMed ID: 30055038
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
    Gossai N; Biegel JA; Messiaen L; Berry SA; Moertel CL
    Am J Med Genet A; 2015 Dec; 167A(12):3186-91. PubMed ID: 26364901
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.